Inherited Disorders Of Vitamins And Cofactors
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Author | : G.M. Addison |
Publisher | : Springer Science & Business Media |
Total Pages | : 162 |
Release | : 2012-12-06 |
Genre | : Medical |
ISBN | : 9401180199 |
Proceedings of the 22nd Annual Symposium of the SSIEM, Newcastle Upon Tyne, September 1984
Author | : Jan Lindsten |
Publisher | : World Scientific |
Total Pages | : 564 |
Release | : 1999 |
Genre | : Medical |
ISBN | : 9789810234102 |
Author | : Johannes Zschocke |
Publisher | : Schattauer Verlag |
Total Pages | : 188 |
Release | : 2011 |
Genre | : Pediatrics |
ISBN | : 3794528166 |
Author | : Nenad Blau |
Publisher | : Springer |
Total Pages | : 880 |
Release | : 2014-07-08 |
Genre | : Medical |
ISBN | : 3642403379 |
This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
Author | : Jane Higdon |
Publisher | : Thieme |
Total Pages | : 547 |
Release | : 2011-09-07 |
Genre | : Medical |
ISBN | : 3131644729 |
The latest and most accurate, peer-reviewed information on the role of vitamins and minerals in health and disease An Evidence-Based Approach to Vitamins and Minerals: Health Benefits and Intake Recommendations is a trusted resource for the health professional who needs to interpret the explosion of studies on the role of micronutrients in health and disease and who is concerned about the proliferation of dietary supplements now available to the consumer. This evidence-based reference, now in a second edition, presents the most current scientific, epidemiological and clinical research on the role of vitamins and minerals in preventing disease and promoting optimal health. Organized by micronutrient, the book covers biological function, deficiency, recommended daily allowance, role in disease prevention and treatment, sources, safety, and interactions with other micronutrients and drugs--all endorsed by the internationally acclaimed Linus Pauling Institute at Oregon State University. Special Features: Each chapter reviewed by a recognized expert in the field, who also served on the book's Editorial Advisory Board Contains the latest intake recommendations from the Linus Pauling Institute, as well as the Food and Nutrition Board of the Institute for Medicine Provides a complete index by disease or disorder that facilitates easy location of condition-specific information found in multiple chapters Extensively referenced, with hundreds of citations from the most current experimental, clinical and epidemiological studies Includes useful appendices covering drug-nutrient interactions and nutrient-nutrient interactions, a glossary of terms, a units conversion table, and the Linus Pauling Institute "Prescription for Health," summarizing its recommendations for a healthy diet, lifestyle, and supplement use Taking the approach that micronutrients play a significant role not only in preventing deficiency disease, but in enhancing general health and averting chronic disease, this book is essential for physicians, nutritionists, and allied health professionals who need the most reliable, up-to-date information in this rapidly expanding field.
Author | : National Research Council |
Publisher | : National Academies Press |
Total Pages | : 765 |
Release | : 1989-01-01 |
Genre | : Medical |
ISBN | : 0309039940 |
Diet and Health examines the many complex issues concerning diet and its role in increasing or decreasing the risk of chronic disease. It proposes dietary recommendations for reducing the risk of the major diseases and causes of death today: atherosclerotic cardiovascular diseases (including heart attack and stroke), cancer, high blood pressure, obesity, osteoporosis, diabetes mellitus, liver disease, and dental caries.
Author | : Uttam Garg |
Publisher | : Elsevier |
Total Pages | : 477 |
Release | : 2017-06-07 |
Genre | : Medical |
ISBN | : 0128029188 |
Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. - Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens - Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers - Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism - Offers guidance on how to distinguish acquired causes from inborn errors of metabolism
Author | : Charles R. Scriver |
Publisher | : New York ; Montreal : McGraw-Hill |
Total Pages | : 6338 |
Release | : 2001 |
Genre | : Genetic disorders |
ISBN | : 9780071363198 |
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author | : Sue Pavord |
Publisher | : Cambridge University Press |
Total Pages | : 362 |
Release | : 2018-02-08 |
Genre | : Medical |
ISBN | : 1108548377 |
Understand the rapidly growing complexities of obstetric hematology and high-risk pregnancy management, with experts in the field. Now in its second edition, this comprehensive and essential guide focuses on providing the best support for patients and clinical staff, to prevent serious complications in pregnancy and the post-partum period for both mother and baby. Wide-ranging and detailed, the guide offers discussions on basic principles of best care, through to tackling lesser-known hematological conditions, such as cytopenias and hemoglobinopathies. Updated with color illustrations, cutting-edge research, accurate blood film reproductions, and practical case studies, the revised edition places invaluable advice into everyday context. This unique resource is essential reading for trainees and practitioners in obstetrics, anesthesia, and hematology, as well as midwives, nurses, and laboratory staff. Clarifying difficult procedures for disease prevention, the guide ensures safety when the stakes are high. Reflecting current evidence-based guidelines, the updated volume is key to improving pregnancy outcomes worldwide.
Author | : Brendan Lee |
Publisher | : Oxford Monographs on Medical G |
Total Pages | : 393 |
Release | : 2014-10-13 |
Genre | : Medical |
ISBN | : 0199797587 |
This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.